Evaluation of targeted exome sequencing for 28 protein‐based blood group systems, including the homologous gene systems, for blood group genotyping
Transfusion2017Vol. 57(4), pp. 1078–1088
Citations Over TimeTop 10% of 2017 papers
Elizna M. Schoeman, Genghis H. Lopez, Eunike C. McGowan, Glenda Millard, Helen O’Brien, Eileen Roulis, Yew‐Wah Liew, Jacqueline R. Martin, Kelli A. McGrath, Tanya Powley, Robert L. Flower, Catherine A. Hyland
Abstract
The targeted exome sequencing strategy employed extended the range of blood group genotypes detected compared with single nucleotide polymorphism typing. This single-test format included detection of complex MNS hybrid cases and, with copy number variation analysis, defined RH hybrid genes along with the RHCE*C allele hitherto difficult to resolve by variant detection. The approach is economical compared with whole-genome sequencing and is suitable for a red blood cell reference laboratory setting.
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